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Variant (rsID / SNP)

rs1057516094

KCNQ2

rs1057516094 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNQ2. Location: chromosome 20, position 62,073,773. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

KCNQ2Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
20:62073773
Cytoband
20q13.33
HGVS
NM_172107.4(KCNQ2):c.802C>T (p.Leu268Phe)
Allele change
Missense_L268F

Associated conditions / phenotypes

Epileptic encephalopathy|Developmental and epileptic encephalopathy, 7|Early infantile epileptic encephalopathy with suppression bursts

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.